Canonical Allele Identifier: CA433126953
Gene: XYLB HGNC NCBI

Linked Data

dbSNP Id: rs1158561046

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38400952A>G , CM000665.2:g.38400952A>G GRCh38
NC_000003.11:g.38442443A>G , CM000665.1:g.38442443A>G GRCh37
NC_000003.10:g.38417447A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000207870.8:c.1500A>G MANE Select ENSP00000207870.3:p.Arg500=
ENST00000649234.1:c.*735A>G ENSP00000497023.1:n.*735A>G
ENST00000650590.1:c.1419A>G ENSP00000496840.1:p.Arg473=
ENST00000207870.7:c.1500A>G ENSP00000207870.3:p.Arg500=
ENST00000424034.5:c.*1163A>G ENSP00000398845.1:n.*1163A>G
ENST00000472721.1:n.377A>G
NM_005108.3:c.1500A>G NP_005099.2:p.Arg500=
XM_011534325.1:c.1500A>G XP_011532627.1:p.Arg500=
XM_011534326.1:c.1419A>G XP_011532628.1:p.Arg473=
XM_011534327.1:c.1500A>G XP_011532629.1:p.Arg500=
XM_011534328.1:c.1500A>G XP_011532630.1:p.Arg500=
XM_011534329.1:c.1500A>G XP_011532631.1:p.Arg500=
XM_011534330.1:c.1500A>G XP_011532632.1:p.Arg500=
NM_001349178.1:c.1500A>G NP_001336107.1:p.Arg500=
NM_001349179.1:c.1089A>G NP_001336108.1:p.Arg363=
NR_146068.1:n.1417A>G
XM_011534325.3:c.1500A>G XP_011532627.1:p.Arg500=
XM_011534327.2:c.1500A>G XP_011532629.1:p.Arg500=
XM_011534328.3:c.1500A>G XP_011532630.1:p.Arg500=
XM_011534329.2:c.1500A>G XP_011532631.1:p.Arg500=
XM_011534330.3:c.1500A>G XP_011532632.1:p.Arg500=
XM_017007595.1:c.1089A>G XP_016863084.1:p.Arg363=
XM_017007596.1:c.1302A>G XP_016863085.1:p.Arg434=
XM_017007597.1:c.819A>G XP_016863086.1:p.Arg273=
XM_017007599.2:c.*110A>G XP_016863088.1:n.*110A>G
XM_024453850.1:c.1302A>G XP_024309618.1:p.Arg434=
NM_001349178.2:c.1500A>G NP_001336107.1:p.Arg500=
NM_005108.4:c.1500A>G MANE Select NP_005099.2:p.Arg500=
NR_146068.2:n.1392A>G
NM_001349179.2:c.1089A>G NP_001336108.1:p.Arg363=